Canonical Allele Identifier: CA266184

Gene: TPP1

Linked Data

• ClinVar Variation Id: 68741
• ClinVar RCV Id: RCV000059623 ; RCV000800616 ; RCV002307388
• dbSNP Id: rs121908202
• ExAC: 11:6636403 G / A
• gnomAD v2: 11-6636403-G-A
• gnomAD v3: 11-6615172-G-A
• gnomAD v4: 11-6615172-G-A
• MyVariant Identifiers: chr11:g.6636403G>A (hg19) ; chr11:g.6615172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615172G>A , CM000673.2:g.6615172G>A	GRCh38
NC_000011.9:g.6636403G>A , CM000673.1:g.6636403G>A	GRCh37
NC_000011.8:g.6592979G>A	NCBI36
NG_008653.1:g.9290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1310C>T	ENSP00000507321.1:p.Ser437Leu
ENST00000299427.12:c.1424C>T MANE Select	ENSP00000299427.6:p.Ser475Leu
ENST00000524611.2:n.284C>T
ENST00000524924.2:n.544C>T
ENST00000533371.6:c.695C>T	ENSP00000437066.1:p.Ser232Leu
ENST00000642892.1:c.695C>T	ENSP00000494165.1:p.Ser232Leu
ENST00000643342.1:c.497C>T
ENST00000643439.1:c.*1164C>T	ENSP00000495849.1:n.*1164C>T
ENST00000643479.1:n.1610C>T
ENST00000643516.1:c.933C>T
ENST00000644218.1:c.1235C>T	ENSP00000493574.1:p.Ser412Leu
ENST00000644683.1:c.*877C>T	ENSP00000494085.1:n.*877C>T
ENST00000644810.1:c.1145C>T	ENSP00000495895.1:p.Ser382Leu
ENST00000644831.1:n.1600C>T
ENST00000644933.1:c.*290C>T	ENSP00000496133.1:n.*290C>T
ENST00000645285.1:c.*290C>T	ENSP00000495058.1:n.*290C>T
ENST00000645331.1:n.2629C>T
ENST00000645620.1:c.695C>T	ENSP00000493657.1:p.Ser232Leu
ENST00000646691.1:n.1311C>T
ENST00000646777.1:n.1757C>T
ENST00000647016.1:n.1904C>T
ENST00000647152.1:c.695C>T	ENSP00000495893.1:p.Ser232Leu
ENST00000647209.1:c.*1293C>T	ENSP00000495558.1:n.*1293C>T
ENST00000647346.1:n.2444C>T
ENST00000299427.10:c.1424C>T	ENSP00000299427.6:p.Ser475Leu
ENST00000524611.1:n.302C>T
ENST00000533371.5:c.695C>T	ENSP00000437066.1:p.Ser232Leu
ENST00000611494.4:c.1424C>T	ENSP00000484546.1:p.Ser475Leu
NM_000391.3:c.1424C>T	NP_000382.3:p.Ser475Leu
NM_000391.4:c.1424C>T MANE Select	NP_000382.3:p.Ser475Leu